NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)
|
rs370819630
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.*12+2T>C
|
rs1297436069
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter)
|
rs1057516664
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000023.4(SGCA):c.748-2A>T
|
rs1412537279
|
0.00001
|
NM_000023.4(SGCA):c.956+21C>T
|
rs367690233
|
0.00001
|
NM_000023.4(SGCA):c.-1_9del (p.Met1fs)
|
rs1057517107
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
NM_000023.4(SGCA):c.158-2A>G
|
rs1057516300
|
|
NM_000023.4(SGCA):c.220del (p.Arg74fs)
|
rs1555568325
|
|
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)
|
rs1555568383
|
|
NM_000023.4(SGCA):c.285AGA[1] (p.Glu96del)
|
rs1555568389
|
|
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly)
|
rs1555568396
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.480_481del (p.Leu161fs)
|
rs1057517142
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)
|
rs1057516242
|
|
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)
|
rs574376340
|
|
NM_000023.4(SGCA):c.559del (p.Leu187fs)
|
rs1057516888
|
|
NM_000023.4(SGCA):c.584+1del
|
rs1555568876
|
|
NM_000023.4(SGCA):c.585-2A>T
|
rs1555568965
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
NM_000023.4(SGCA):c.622A>G (p.Thr208Ala)
|
rs1555568984
|
|
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)
|
rs750844090
|
|
NM_000023.4(SGCA):c.718T>G (p.Phe240Val)
|
rs1555569031
|
|
NM_000023.4(SGCA):c.727G>A (p.Asp243Asn)
|
rs1555569038
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.755del (p.Lys252fs)
|
rs1057516548
|
|
NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del)
|
rs750086289
|
|
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs)
|
rs1057516729
|
|
NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del)
|
rs1555569303
|
|
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)
|
rs1555569329
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter)
|
rs1555569339
|
|
NM_000023.4(SGCA):c.956+2_956+19del
|
rs1555569342
|
|
NM_001135697.3(SGCA):c.584+521del
|
rs1220674950
|
|